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Guidelines

MIRAGE

HPS4 biogenesis of lysosomal organelles complex 3 subunit 2

Summary

Gene Symbol

HPS4

Organism

Homo sapiens (human)

External Links

NCBI Gene

89781

PubChem

89781

Alliance of Genome Resources

HGNC:15844

Annotation

Keyword

Alternative splicing
Guanine-nucleotide releasing factor
Hermansky-Pudlak syndrome
Phosphoprotein
Proteomics identification
Reference proteome

Proteins

Displaying **all 7** entries
UniProt	Protein Name
A0A8V8TMY3
A0A8V8TN06
F1LLU8
Q9NQG7	Hermansky-Pudlak syndrome 4 protein Light-ear protein homolog
Q6P1K3
A0A8V8TPB3
A8K2E6

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
protein targeting	IDA	12663659
protein targeting	IBA
lysosome organization	IDA	12663659
blood coagulation	IEA
hemostasis	TAS	11836498

GO Hierarchy

biological process

cellular process [inference]

vesicle-mediated transport

cellular developmental process [inference]

cell differentiation [inference]

pigment cell differentiation [inference]

melanocyte differentiation

cellular localization [inference]

intracellular transport

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein targeting

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization [inference]

lytic vacuole organization [inference]

lysosome organization

vesicle organization [inference]

secretory granule organization [inference]

platelet dense granule organization

pigment granule organization [inference]

melanosome organization [inference]

melanosome assembly

organelle assembly [inference]

melanosome assembly

cellular component assembly [inference]

organelle assembly [inference]

melanosome assembly

multicellular organismal process [inference]

coagulation [inference]

blood coagulation

developmental process [inference]

cellular developmental process [inference]

cell differentiation [inference]

pigment cell differentiation [inference]

melanocyte differentiation

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein targeting

establishment of localization [inference]

transport [inference]

establishment of protein localization [inference]

protein targeting

establishment of localization in cell [inference]

intracellular transport

cellular localization [inference]

intracellular transport

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein targeting

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of cellular localization [inference]

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein targeting [inference]

regulation of protein targeting to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

regulation of establishment of protein localization to mitochondrion [inference]

regulation of protein targeting to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

positive regulation of establishment of protein localization [inference]

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

positive regulation of biological process [inference]

positive regulation of developmental pigmentation [inference]

positive regulation of eye pigmentation

positive regulation of cellular process [inference]

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

regulation of cellular process [inference]

positive regulation of cellular process [inference]

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

regulation of cellular localization [inference]

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of protein targeting [inference]

regulation of protein targeting to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

regulation of establishment of protein localization to mitochondrion [inference]

regulation of protein targeting to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

positive regulation of establishment of protein localization [inference]

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

positive regulation of protein localization [inference]

positive regulation of establishment of protein localization [inference]

positive regulation of establishment of protein localization to mitochondrion [inference]

positive regulation of protein targeting to mitochondrion

regulation of pigmentation [inference]

regulation of developmental pigmentation [inference]

regulation of eye pigmentation [inference]

positive regulation of eye pigmentation

positive regulation of developmental pigmentation [inference]

positive regulation of eye pigmentation

regulation of biological quality [inference]

regulation of protein stability [inference]

protein stabilization

regulation of body fluid levels [inference]

blood coagulation

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
cytoplasm	IDA	12756248
lysosome	IDA	12663659
lysosomal membrane	IBA
cytosol	TAS
membrane	IDA	12756248

GO Hierarchy

cellular component

protein-containing complex [inference]

intracellular protein-containing complex [inference]

BLOC complex [inference]

BLOC-3 complex

cellular anatomical entity [inference]

organelle membrane [inference]

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

pigment granule [inference]

melanosome

secretory vesicle [inference]

secretory granule [inference]

platelet dense granule

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle

pigment granule [inference]

melanosome

secretory vesicle [inference]

secretory granule [inference]

platelet dense granule

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle

pigment granule [inference]

melanosome

secretory vesicle [inference]

secretory granule [inference]

platelet dense granule

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
guanyl-nucleotide exchange factor activity	IDA	23084991
guanyl-nucleotide exchange factor activity	IBA
protein binding	IPI	12756248 20048159 23084991
small GTPase binding	IBA
small GTPase binding	IPI	20048159

GO Hierarchy

molecular function

binding [inference]

protein binding

enzyme binding [inference]

GTPase binding [inference]

small GTPase binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity

protein homodimerization activity

molecular function regulator activity [inference]

enzyme regulator activity [inference]

nucleoside-triphosphatase regulator activity [inference]

GTPase regulator activity [inference]

guanyl-nucleotide exchange factor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

hermansky-pudlak syndrome 4

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
melanosome assembly
protein targeting

Displaying **all 3** entries
InterPro
BLOC-3 complex member HPS4
CCZ1/INTU/HPS4, third Longin domain
CCZ1/INTU/HSP4, first Longin domain

Disease

Disease Ontology

Displaying **all 3** entries
DO ID	Disease Name	Source
DOID:0060542	Hermansky-Pudlak syndrome 4	Alliance of Genome Resources
DOID:3753	Hermansky-Pudlak syndrome	Alliance of Genome Resources
DOID:5419	schizophrenia	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 69 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus laevis	89781	Xenbase:XB-GENE-941401
Mus musculus	192232		MOUSE44784
Danio rerio	393296		DANRE42691
Pan troglodytes	458723		PANTR26229
Canis lupus familiaris	486330		CANLF10433
Bos taurus	615386		BOVIN09741
Macaca mulatta	712549		MACMU01030
Monodelphis domestica	100011128		MONDO19689
Sus scrofa	100049674		PIGXX07081
Equus caballus	100059474		HORSE41507

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025